Linked Data
ClinVar Variation Id:
589573
dbSNP Id:
rs758188280
ExAC:
8:41790713 G / GGGT
gnomAD v2:
8-41790713-G-GGGT
gnomAD v3:
8-41933195-G-GGGT
gnomAD v4:
8-41933195-G-GGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933201_41933203dup , CM000670.2:g.41933201_41933203dup | GRCh38 |
| NC_000008.10:g.41790719_41790721dup , CM000670.1:g.41790719_41790721dup | GRCh37 |
| NC_000008.9:g.41909876_41909878dup | NCBI36 |
| NG_042093.1:g.123829_123831dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5022_5024dup MANE Select | ENSP00000265713.2:p.Pro1675_Gln1676insPro | |
| ENST00000396930.4:c.5022_5024dup | ENSP00000380136.3:p.Pro1675_Gln1676insPro | |
| ENST00000406337.6:c.5028_5030dup | ENSP00000385888.2:p.Pro1677_Gln1678insPro | |
| ENST00000648335.1:c.5022_5024dup | ENSP00000497086.1:p.Pro1675_Gln1676insPro | |
| ENST00000649817.1:c.3703_3705dup | ||
| ENST00000265713.6:c.5022_5024dup | ENSP00000265713.2:p.Pro1675_Gln1676insPro | |
| ENST00000396930.3:c.5022_5024dup | ENSP00000380136.3:p.Pro1675_Gln1676insPro | |
| ENST00000406337.5:c.5022_5024dup | ENSP00000385888.1:p.Pro1675_Gln1676insPro | |
| NM_001099412.1:c.5022_5024dup | NP_001092882.1:p.Pro1675_Gln1676insPro | |
| NM_001099413.1:c.5022_5024dup | NP_001092883.1:p.Pro1675_Gln1676insPro | |
| NM_006766.3:c.5022_5024dup | NP_006757.2:p.Pro1675_Gln1676insPro | |
| NM_006766.4:c.5022_5024dup | NP_006757.2:p.Pro1675_Gln1676insPro | |
| XM_011544656.1:c.5154_5156dup | XP_011542958.1:p.Pro1719_Gln1720insPro | |
| XM_011544657.1:c.5154_5156dup | XP_011542959.1:p.Pro1719_Gln1720insPro | |
| XM_011544658.1:c.5154_5156dup | XP_011542960.1:p.Pro1719_Gln1720insPro | |
| XM_011544659.1:c.5133_5135dup | XP_011542961.1:p.Pro1712_Gln1713insPro | |
| XM_011544660.1:c.5040_5042dup | XP_011542962.1:p.Pro1681_Gln1682insPro | |
| XM_011544656.2:c.5154_5156dup | XP_011542958.1:p.Pro1719_Gln1720insPro | |
| XM_011544657.3:c.5154_5156dup | XP_011542959.1:p.Pro1719_Gln1720insPro | |
| XM_011544658.3:c.5154_5156dup | XP_011542960.1:p.Pro1719_Gln1720insPro | |
| XM_011544659.2:c.5133_5135dup | XP_011542961.1:p.Pro1712_Gln1713insPro | |
| XM_017013863.1:c.5022_5024dup | XP_016869352.1:p.Pro1675_Gln1676insPro | |
| XM_017013864.2:c.5022_5024dup | XP_016869353.1:p.Pro1675_Gln1676insPro | |
| XM_024447285.1:c.3594_3596dup | XP_024303053.1:p.Pro1199_Gln1200insPro | |
| NM_006766.5:c.5022_5024dup MANE Select | NP_006757.2:p.Pro1675_Gln1676insPro |